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Article

Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report.

Journal of pediatric hematology/oncology - 1 May 2007

McFarren Alicia, Jayabose Somasundaram, Fevzi Ozkaynak Mehmet, Tugal Oya, Sandoval Claudio

Abstract excerpt

Diamond-Blackfan anemia (DBA) is associated with congenital anomalies especially of the midline. When present, facial anomalies are reminiscent of Treacher-Collins syndrome, and both DBA and Treacher-Collins syndrome are disorders of ribosomal biogenesis. Herein, we describe a female infant with multiple midline defects associated with DBA and reaffirm the absence of RPS-19 mutations in DBA patients with facial...

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Share to Abnormalities, Multiple
Share to Anemia, Diamond-Blackfan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mandibulofacial Dysostosis

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Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 17483715
DOI: 10.1097/MPH.0b013e31805d8f45

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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